TABLE 2-3Genetic Variants Used for Disease Diagnosis and Treatment

Disease/ConditionGenetic Factor
Hyperlipidemia susceptibilityLDL receptor gene mutation
Breast/ovarian cancer susceptibilityBRCA1/BRCA2 mutation
Lung cancer treatmentKRAS, EGFR, EML4-ALK, HER2, BRAF, MET, AKT1, MAP2K1, PIKCA mutations
Maturity-onset diabetes of the young classificationchromosome 7, glucokinase, chromosome 12, hepatic nuclear factor 1-alpha, etc., mutations

SOURCE: Data derived from IOM, 2011.

From: 2, Imperative: Managing Rapidly Increasing Complexity

Cover of Best Care at Lower Cost
Best Care at Lower Cost: The Path to Continuously Learning Health Care in America.
Committee on the Learning Health Care System in America; Institute of Medicine; Smith M, Saunders R, Stuckhardt L, et al., editors.
Washington (DC): National Academies Press (US); 2013 May 10.
Copyright 2013 by the National Academy of Sciences. All rights reserved.

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